Journal List > J Korean Ophthalmol Soc > v.50(7) > 1008321

Ha and Yu: Two Female Siblings With Bietti Crystalline Retinopathy Without Corneal Dystrophy

Abstract

Purpose

To report clinical and functional results in two female siblings with Bietti crystalline retinopathy.

Case summary

Recently, a 48-year-old female with bilateral intraretinal depositions presented with a complaint of decreased visual acuity and night blindness in both eyes. Several tiny glistening yellow intraretinal crystalline depositions were observed. Fluorescein angiography showed a well-demarcated choriocapillaris filling defect and pigment epithelial window defect. Electro-physiologic tests showed decreased amplitude and OCT scans showed fine intraretinal lesions with increased signal intensity. In addition, a 50-year-old female sibling presented with bilateral yellow, intraretinal crystalline depositions. A choriocapillaris filling defect and pigment epithelial window defect in a fluorescein angiography was observed. Electrophysiologic tests showed severely decreased amplitude.

Conclusions

Two female siblings with Bietti crystalline retinopathy are reported.

References

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Figure 1.
Case 1. (A) Numerous retinal crystals are found throughout the posterior pole and mid-periphery. Pigmentary clumps, atrophy of the retinal pigment epithelium, and choriocapillaris atrophy are also found. (B) An early phase of fluorescein angiography. It shows well defined choriocapillaris filling defects and pigment epithelial window defect. The crystalline deposits do not stain, but some of them block the fluorescence. (C) Indocyanine green angiography shows patchy atrophy of the choriocapillaris and pigment epithelial window defect. (D) OCT scans show intraretinal hyperintense lesions.
jkos-50-1120f1.tif
Figure 2.
Full-field ERG shows reduced amplitude. (A) Case 1, (B) Case 2.
jkos-50-1120f2.tif
Figure 3.
Case 1. Multifocal ERG shows reduced amplitude at the central macular area. (A) right eye, (B) left eye.
jkos-50-1120f3.tif
Figure 4.
Case 1. Goldmann visual field test shows constriction of the visual field in both eyes.
jkos-50-1120f4.tif
Figure 5.
Case 2. (A) Numerous retinal crystals are found throughout the posterior pole and mid-periphery. Pigmentary clumps, atrophy of the retinal pigment epithelium, and choriocapillaris atrophy are also found. (B) An early phase of fluorescein angiography. It shows generalized choriocapillaris filling defects and pigment epithelial window defect. The crystal line deposits do not stain, but some of them block the fluorescence.
jkos-50-1120f5.tif
Figure 6.
Case 2. (A) Goldmann visual field test shows some peripheral visual field and central visual field remained in the left eye and some peripheral field remained in the right eye. (B) After two years, Goldmann visual field test shows more visual field loss than on the previous test.
jkos-50-1120f6.tif
Figure 7.
Pedigree chart of the family.
jkos-50-1120f7.tif
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